Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI280/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "541", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.349193, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33036142, "genomic_position_hg38": 31663829, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.699664", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.112G>A", "protein_change": "p.Gly38Arg", "transcript_id": "NM_000454.4", "dbsnp_id": "rs121912431", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI280" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/541/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/541/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/541/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/541/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/541/?format=api" } }, { "type": "SmallVariant", "id": "542", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 1.59e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.637e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.981738, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 21162130, "genomic_position_hg38": 20693971, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.705358", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.407C>T", "protein_change": "p.Pro136Leu", "transcript_id": "NM_001097577.2", "dbsnp_id": "rs121909543", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI280" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/542/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/542/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/542/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/542/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/542/?format=api" } }, { "type": "SmallVariant", "id": "543", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002884, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.0009251, "gnomad_ASJ_maf": 0.001587, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005083, "gnomad_NFE_maf": 0.00496, "gnomad_OTH_maf": 0.001793, "gnomad_SAS_maf": 0.002613, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.004535 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.499074, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74588717, "genomic_position_hg38": 74361590, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.710897", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3746C>T", "protein_change": "p.Thr1249Ile", "transcript_id": "NM_004082.4", "dbsnp_id": "rs72466496", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI280" }, { "type": "Combination", "id": "OLI281" }, { "type": "Combination", "id": "OLI663" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/543/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/543/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/543/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/543/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/543/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 3 } }